Hypogonadotropic hypogonadism in a female patient with congenital arhinia
-
Janel Darcy Hunter
,
Melissa Ann Davis
Abstract
The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism. She had no other hormone deficiencies and brain magnetic resonance imaging demonstrated a normal pituitary gland. Abdominal ultrasound showed a prepubertal uterus and ovaries. She was subsequently started on sex steroid treatment to induce secondary sexual characteristics. This case demonstrates that abnormalities of nasal development may provide an early diagnostic clue to hypogonadotropic hypogonadism, particularly in female patients who would not manifest classic signs of CHH in infancy (micropenis and cryptorchidism). Early diagnosis of CHH and timely initiation of sex steroid therapy is important to prevent comorbidities related to pubertal delay.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Editorial
- Disorders of sex development
- Original Articles
- Fertility and sexual function: a gap in training in pediatric endocrinology
- Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre
- Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development
- Sensitivity and specificity of different methods for cystic fibrosis-related diabetes screening: is the oral glucose tolerance test still the standard?
- Anti-hyperglycemic activity of Aegle marmelos (L.) corr. is partly mediated by increased insulin secretion, α-amylase inhibition, and retardation of glucose absorption
- Risk factors that affect metabolic health status in obese children
- Nocturnal levels of chemerin and progranulin in adolescents: influence of sex, body mass index, glucose metabolism and sleep
- Elevated endogenous secretory receptor for advanced glycation end products (esRAGE) levels are associated with circulating soluble RAGE levels in diabetic children
- Food exchange estimation by children with type 1 diabetes at summer camp
- Usefulness of non-fasting lipid parameters in children
- Monitoring steroid replacement therapy in children with congenital adrenal hyperplasia
- Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population
- An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY)
- Case Reports
- Hypogonadotropic hypogonadism in a female patient with congenital arhinia
- Transdermal testosterone gel for induction and continuation of puberty in adolescent boys with hepatic dysfunction
- Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
- Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
