First reported case of Turner syndrome with Krabbe disease in a child: a case report

Introduction

Turner syndrome (TS) is one of the most common sex chromosome abnormalities, affecting approximately one in 2,000 females, characterized by complete or partial loss of the X chromosome (1). Typical manifestations include growth retardation, gonadal dysplasia, and characteristic physical features, often accompanied by multiple congenital malformations or developmental abnormalities (2). With advancing age, affected individuals are prone to autoimmune diseases such as autoimmune thyroiditis, coeliac disease, or type 1 diabetes mellitus (3), while also facing significant health challenges including osteoporosis, infertility, and psychological comorbidities. Consequently, TS necessitates comprehensive, multidisciplinary lifelong care involving early interventions like growth hormone (GH) therapy and estrogen replacement, coupled with systematic monitoring, to optimize long-term health outcomes and quality of life (2). To date, there have been reported cases worldwide of TS co-occurring with a second genetic disorder, such as X-linked disorders (hemophilia, Fabry disease and Duchenne muscular dystrophy), aneuploidy syndromes (Down syndrome), autosomal dominant disorders (microcystic lymphatic malformations and neurofibromatosis-1), autosomal recessive disorders (Thalassemia major), chromosomal rearrangements (DiGeorge syndrome), imprinting disorders (Prader-Willi syndrome), and mitochondrial disorders (Leber hereditary optic neuropathy) (4-7). However, the coexistence of TS with Krabbe disease (KD) has not been documented in existing medical reports as of now. We herein present a case report of TS comorbid with KD diagnosed in our clinical practice. We present this article in accordance with the CARE reporting checklist (available at https://tp.amegroups.com/article/view/10.21037/tp-2026-1-0175/rc).

Case presentation

On January 2023, a 13-year-3-month-old girl who was diagnosed with TS visited our hospital for the first time due to fatigue.

The child was born prematurely with a birth weight of 2.55 kg and an unknown body length. She was hospitalized for one week due to neonatal jaundice, and did not have a history of asphyxia necessitating resuscitation. Based on her paternal height of 175 cm and maternal height of 162 cm, her genetic target height was estimated to be 162 cm. She had a history of recurrent respiratory infections but no prior diagnosis of inherited metabolic or infectious diseases. Her medical history included a single episode of pneumonia and a well-tolerated platelet transfusion. Besides, she had a confirmed diagnosis of congenital heart disease and had undergone surgical correction for congenital heart defects at an outside hospital at 3 years 8 months. The procedure included repair of partial anomalous pulmonary venous connection with concurrent placement of a temporary epicardial pacemaker. The patient had achieved satisfactory postoperative recovery.

At 9 years 10 months, she was admitted to an outside hospital with significant short stature and absence of secondary sexual characteristics. Physical examination revealed: height 123 cm, weight 23.5 kg, and bone age of 8 years and 10 months. Karyotype analysis demonstrated 45,X, confirming the diagnosis of TS (Figure 1). Subsequently, she commenced rhGH therapy at 10 years at a dose of 7 IU administered subcutaneously once nightly (Figure 2). The rhGH therapy was administered for over 4 years. Prior to rhGH therapy, her height standard deviation score (HtSDS) was −2.7. Following one year of treatment, it improved to −2.0, then to −1.86 after two years, and −1.75 after three years. By the fourth year, her HtSDS had risen significantly to −0.30, demonstrating significant growth improvement with rhGH therapy (Figure 3). The rhGH dosage ranged from 0.17 to 0.30 IU per kilogram of body weight, administered subcutaneously once nightly during the treatment period (Figure 2). Follow-up assessments were conducted quarterly, with rhGH dose adjustments based on growth velocity and IGF-1 levels. During follow-up evaluations, the patient demonstrated continued improvement in growth parameters without significant adverse effects (Figure 4). In addition to rhGH, estrogen replacement therapy was initiated with oral estradiol valerate tablet (Progynova^®) at a daily dose of 0.2 mg at 12 years 8 months, supplemented with vitamin D and calcium (Figure 2). Estrogen replacement therapy was discontinued at 14 years 10 months owing to persistent vaginal bleeding and resumed at 15 years 7 months. Uterine dimensions increased in response to treatment, breast development reached Tanner stage B3, but menarche had not yet occurred.

Figure 1 The diagnosis of Turner syndrome was confirmed by chromosomal karyotyping. The red arrow indicates the single X chromosome (45,X).

Figure 2 Treatment timeline. Key clinical events are plotted according to the patient’s age at occurrence. Age is expressed in years and months. m, months; qd, quaque die; qn, quaque nocte; rhGH, recombinant human growth hormone; y, years.

Figure 3 The patient’s growth curve. rhGH, recombinant human growth hormone.

Figure 4 The changes of IGF-1 (A), IGFBP3 (B), blood glucose (C) levels and thyroid function (D) of patients at different stages of rhGH treatment. FT3, free triiodothyronine; FT4, free thyroxine; rhGH, recombinant human growth hormone; TSH, thyroid-stimulating hormone.

The girl was admitted to our hospital at 14 years 8 months due to nausea, abdominal pain, dizziness, fatigue and weight loss for one month. Her weight decreased by approximately 5 kg in the past month. She was 155.5 cm tall, weighed 43.5 kg and had normal muscle strength. The patient’s laboratory findings during hospitalization were as follows: blood lactate 1.14 mmol/L (normal), pyruvate 47.2 µmol/L (normal), normal cardiac enzyme profile and hepatic/renal function; pituitary magnetic resonance imaging (MRI) revealed an adenohypophysis height of 5.9 mm, with a lesion showing long T1 and long T2 signal and measuring approximately 4.5 mm × 3.4 mm, without pituitary stalk deviation, no compression of the optic chiasm, and preserved neurohypophysis signal, possibly representing a Rathke’s cleft cyst; endocrine tests demonstrated secondary adrenal insufficiency [adrenocorticotropic hormone (ACTH) <5.0 pg/mL; cortisol <1.0 µg/dL]. Subsequently, hydrocortisone was administered to treat her symptoms of secondary adrenal insufficiency. Cortisol levels returned to normal (7.9 mcg/dL) after hydrocortisone treatment, but ACTH remained at a low level (<5.0 pg/mL). On repeated assessments approximately every three months, cortisol levels remained consistently normal while ACTH stayed persistently low. At 16 years 2 months, the cortisol level was 9.1 mcg/dL, while ACTH remained subnormal at 18.6 pg/mL. Based on her satisfactory height growth trajectory and normal sexual development, rhGH therapy has been temporarily suspended following comprehensive clinical evaluation. Since secondary adrenal insufficiency was generally not observed in patients with TS, it was necessary to consider the possibility of other genetic metabolic diseases, prompting comprehensive whole-exome sequencing for definitive etiological diagnosis. Peripheral blood samples were obtained from the patient and her parents. Whole exome sequencing (WES) was performed using the WES016 Trios Whole Exome Sequencing V6 platform (GenCap^® custom exome capture probe V6.0, MyGenostics, Beijing, China), with data aligned to GRCh37/hg19. At 14 years 9 months, this analysis revealed a homozygous galactocerebrosidase (GALC) gene variant [c.1901T>C (p.Leu634Ser)] inherited from both parents (Figure 5). The variant was classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines (PM3_VeryStrong + PP1 + PS3_Supporting). Subsequent biochemical testing revealed markedly reduced GALC activity at 40.6 nmol/17h/mg protein (reference: 64.9−222.8 nmol/17h/mg protein), confirming the concurrent diagnosis of KD. Notably, brain MRI revealed bilateral symmetric hyperintense signal abnormalities along the corticospinal tracts, which appeared as slightly prolonged T1 and T2 signal intensity, with hyperintensity on T2-Fluid-Attenuated Inversion Recovery (FLAIR) sequences and mild restricted diffusion on diffusion-weighted imaging (DWI) (Figure 6). This finding further supported the diagnosis of late-onset KD. Guided by the existing recommendations, which primarily support hematopoietic stem cell transplantation (HSCT) for asymptomatic or mildly symptomatic infantile-onset KD, the multidisciplinary team (MDT) determined that the risks currently outweighed the potential benefits for this adolescent-onset KD patient with cardiac involvement, and thus recommended postponing the procedure. A comprehensive re-evaluation of the patient’s condition to determine the feasibility of HSCT can be considered after cardiac transplantation has been performed.

Figure 5 The diagnosis of Krabbe disease was confirmed by genetic testing.

Figure 6 Brain MRI of the patient. Brain MRI revealed bilateral corticospinal tract lesions (white arrows) characterized by slightly prolonged T1 (A) and T2 (B) signals, hyperintensity on T2-FLAIR (C), and mild diffusion restriction on DWI (D). DWI, diffusion-weighted imaging; FLAIR, Fluid-Attenuated Inversion Recovery; MRI, magnetic resonance imaging.

Ethical consideration

All procedures performed in this study were in accordance with the Declaration of Helsinki and its subsequent amendments. This study was approved by the Ethics Committee of Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology. Written informed consent was obtained from the patient’s legal guardians for publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Discussion

This case is the first reported patient with TS comorbid with KD. From an epidemiological perspective, the incidence rates of both TS and KD are relatively low, making the probability of their co-occurrence in the same individual exceedingly rare.

Patients with TS exhibit an increased likelihood of developing autoimmune diseases, including diabetes, thyroiditis, celiac disease, inflammatory bowel disease and Addison’s disease, with the risk escalating with age (8,9). Addison’s disease, also known as primary adrenal insufficiency, is typically characterized by low serum cortisol levels and elevated ACTH levels (10). In contrast, our patient presented with simultaneous reductions in both ACTH and cortisol levels, indicative of secondary adrenal insufficiency. Additionally, there has been report of TS patient developing secondary adrenal insufficiency due to autoimmune hypophysitis (11). However, the patient in this study did not exhibit characteristic features of hypophysitis. Therefore, the adrenal dysfunction in this patient is unlikely to be associated with TS. In addition, a study on patients with adult-onset GH deficiency has shown that GH can inhibit the activity of 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) and reduce the conversion of cortisone to cortisol, though cortisol levels remained within the normal range (12). Nevertheless, the patient in our study was a child with cortisol levels significantly below the normal range, which limits the applicability of findings from adult-onset GH deficiency research to our case. Therefore, the patient’s adrenal insufficiency appears to be largely unrelated to rhGH treatment. A small Rathke’s cleft cyst, measuring 4.5 mm × 3.4 mm, was identified on pituitary MRI. However, given its diminutive size and the absence of mass effect, pituitary stalk deviation, or gland compression, this incidental finding is unlikely to be responsible for the patient’s secondary adrenal insufficiency (13). This patient presented with symptoms including nausea, abdominal pain, dizziness, fatigue, and weight loss at 14 years 8 months. Initial evaluations excluded common gastrointestinal, endocrine, and cardiovascular causes, secondary adrenal insufficiency was identified, but fatigue symptoms showed no significant improvement with hydrocortisone treatment. Considering the patient’s TS background and refractory symptoms, further metabolic screening was performed: normal blood lactate, pyruvate, and myocardial enzyme levels reduced the possibility of mitochondrial myopathy (14). Ultimately, genetic testing and deficient GALC enzyme activity confirmed the diagnosis of KD. This case highlights that KD may be associated with simultaneous involvement of both the nervous system and adrenal function, with its nonspecific symptoms easily overlooked.

Research evidence indicates that the incidence rate of polygenic diseases ranges from 1.4% to 8.5% (15,16). Patients with TS, due to their inherent genomic imbalance, not only exhibit characteristic phenotypes but may also develop additional genetic disorders concurrently. A review classified comorbid genetic disorders in TS into seven categories, with aneuploidy syndromes being the most prevalent and accounting for 51% of cases, followed by X-linked disorders (24%) and autosomal dominant disorders (17%) (4). The risk mechanisms operate at multiple levels, primarily driven by the full penetrance of X-linked recessive conditions and genomic instability, which increases the likelihood of concurrent aneuploidies (17-19). To our knowledge, this is the first case of cytogenetically and molecularly confirmed TS and KD occurring concomitantly.

KD is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GALC gene, leading to disorders in sphingolipid metabolism (20). The incidence rate of KD in the United States is estimated at 1:250,000 (21), while definitive epidemiological data remain unavailable for China. According to the age of onset and progression rate, KD can be classified into infantile, juvenile, and adult types (22). Common symptoms of late-onset KD include attention deficits, visual impairments, muscle weakness, balance problems, tremors, gait abnormalities and cognitive impairment (22), The symptom profile of this case is different from that of typical KD manifestations (23), likely reflecting the greater clinical heterogeneity associated with the juvenile-onset form of the disorder. In addition, a published case report has reported adrenal insufficiency occurring in a patient with KD (24), indicating that the adrenal dysfunction observed in our case may also be attributable to KD. Central nervous system inflammation could lead to activation of the hypothalamic-pituitary-adrenal axis (HPA) axis (25). Most patients with chronic fatigue syndrome exhibited central HPA axis dysfunction, with reduced ACTH levels being a common phenomenon (26). Thus, in the patient of this study, central nervous system lesions may disrupt HPA axis-mediated regulation of ACTH release, potentially leading to adrenal insufficiency. In patients with X-linked adrenoleukodystrophy, mutations in the ABCD1 gene impair the degradation of very long chain fatty acids (VLCFAs) in mitochondria. The resulting esters formed with cholesterol accumulate in adrenocortical cells, resulting in adrenal insufficiency (27). In patients with KD, GALC deficiency may cause analogous adrenal pathology via its substrate, though this requires further study. In summary, our observation suggests that adrenal insufficiency may represent an atypical clinical manifestation of KD, potentially related to central nervous system involvement and accumulation of GALC metabolites. However, the precise mechanism underlying this association remains to be elucidated.

While the diagnosis of KD in our patient was confirmed by reduced GALC enzyme activity and pathogenic GALC mutations, which represent the current most reliable diagnostic basis (28), we acknowledge the growing interest in emerging biomarkers and advanced neuroimaging techniques for this disorder. Recent studies by McCarron et al. and Urizar et al. highlight the diagnostic challenges posed by attenuated phenotypes (29,30). In this context, psychosine (galactosylsphingosine) has emerged as a specific biomarker that can support the diagnosis, predict disease onset, and monitor therapeutic response. Additionally, magnetic resonance spectroscopy (MRS) can detect metabolic derangements—such as elevated choline and reduced N-acetylaspartate—and may serve as a diagnostic tool for KD, potentially useful for assessing early disease activity. Future studies could incorporate these tools to facilitate earlier recognition of attenuated KD. Moreover, the c.1901T>C (p.Leu634Ser) variant identified in our patient is a known pathogenic variant in the GALC gene. It has been predominantly reported in patients with late-onset KD, particularly in Asian populations (31). In a population screening of Southern Chinese individuals, the allele frequency of this variant was approximately 0.71% (32). Interestingly, the same homozygous variant has also been reported in a newborn presenting with early-infantile KD characterized by seizures, encephalopathy, and multi-organ dysfunction (33), in contrast to our patient’s adolescent-onset presentation with adrenal insufficiency. This striking phenotypic variability, despite identical genotypes, highlighted the broad clinical spectrum of KD and suggested that additional modifying factors might play a role.

Current therapeutic approaches for KD remain predominantly supportive, with HSCT serving as the only disease-modifying intervention when performed early (20). However, study evidence indicated that only asymptomatic or mildly symptomatic patients with infantile-onset KD derived significant benefit from this procedure (34). For infantile-onset KD, HSCT can significantly improve survival and neurological function, but its efficacy is closely related to the timing of transplantation. Following transplantation, asymptomatic patients may achieve near-normal developmental outcomes, whereas symptomatic patients with disease onset after 12 months of age often persists motor dysfunction (35). In this particular case involving juvenile-onset KD with concomitant cardiac dysfunction, HSCT carries substantial risks (36). Consequently, the current treatment strategy was necessarily limited to palliative symptom management and supportive measures. A case of KD presenting with demyelinating sensorimotor polyneuropathy similarly opted for conservative management after undergoing HSCT evaluation (37). Currently, multiple emerging therapeutic options for KD exist beyond supportive care, encompassing enzyme replacement therapy, substrate reduction therapy, and adeno-associated virus-mediated gene therapy (34,37). However, due to the disease’s complexity, technical limitations and unresolved safety concerns, they have not yet been widely adopted in clinical practice. In summary, the treatment of KD remains a complex and challenging field. It is hoped that with the continuous optimization of combination therapy strategies and development of new therapies, more effective treatment options will be available for patients in future.

Clinically, KD may present with secondary adrenal insufficiency in the absence of typical neurological symptoms, and pre-existing conditions like TS may mask the diagnosis. Clinicians should maintain a low threshold for metabolic screening in unexplained cases. Future studies are warranted to explore whether GALC deficiency affects HPA axis function or adrenal cortical biology. Additionally, the prevalence of adrenal insufficiency in late-onset KD remains unknown. Future case series or registry-based studies may help address this question.

Several limitations of this case report should be acknowledged. According to the NICE guideline, although ACTH stimulation testing is the definitive method for diagnosing adrenal insufficiency, it is operationally challenging and costly, and morning cortisol measurement is recommended as an alternative (38). Therefore, the diagnosis in our patient was based on clinical manifestations and repeated morning biochemical testing. Additionally, the association between KD and secondary adrenal insufficiency remains speculative, as we cannot entirely exclude other contributing factors. Nevertheless, these limitations do not diminish the diagnostic value of this case in highlighting the atypical presentation of late-onset KD.

From the patient’s perspective, the most challenging aspect of the illness was the prolonged diagnostic odyssey. She experienced months of unexplained fatigue, abdominal pain, and weight loss without a clear cause. Although the diagnosis of KD was ultimately confirmed, the initial lack of answers caused significant distress for both the patient and her family. The family expresses hope that this case report will raise awareness of atypical presentations of KD and reduce diagnostic delays for other patients.

At the time of manuscript submission, the patient has been followed for 18 months since diagnosis. She remains on stable hydrocortisone replacement. Long-term follow-up is ongoing, and we plan to report her clinical course in future communications.

Conclusions

The case highlighted that secondary adrenal insufficiency could serve as an atypical clinical manifestation of KD. Furthermore, rhGH demonstrated satisfactory efficacy and safety in improving short stature in patient with 45,X TS. This study is the first to report a child with TS comorbid with KD, indicating the possibility of coexistence of multiple genetic diseases and underscores the necessity for a comprehensive genetic evaluation in TS patients presenting with unexplained metabolic abnormalities.

Acknowledgments

None.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://tp.amegroups.com/article/view/10.21037/tp-2026-1-0175/rc

Peer Review File: Available at https://tp.amegroups.com/article/view/10.21037/tp-2026-1-0175/prf

Funding: This study was supported by the National Key R&D Program of China (No. 2023YFC2706300) and Clinical Medicine Innovation and Development Research Project (Nos. YXJL-2024-1179-0367 and YXJL-2024-1179-0368).

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://tp.amegroups.com/article/view/10.21037/tp-2026-1-0175/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the Declaration of Helsinki and its subsequent amendments. This study was approved by the Ethics Committee of Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology. Written informed consent was obtained from the patient’s legal guardians for publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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