Primary hypergonadotropic hypogonadism-partial alopecia syndrome

What it is

From: Orphanet

A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Müllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal eyebrow morphology · Very frequent (99-80%)

An abnormality of the eyebrow.

Absence of secondary sex characteristics · Very frequent (99-80%)

No secondary sexual characteristics are present at puberty.

Agonadism · Very frequent (99-80%)

Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).

Alopecia · Very frequent (99-80%)

A noncongenital process of hair loss, which may progress to partial or complete baldness.

Aplasia of the ovary · Very frequent (99-80%)

Aplasia, that is failure to develop, of the ovary.

Aplasia/hypoplasia of the uterus · Very frequent (99-80%)

Absence or developmental hypoplasia of the uterus.

Breast hypoplasia · Very frequent (99-80%)

Underdevelopment of the breast.

Cryptorchidism · Very frequent (99-80%)

Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.

Decreased serum estradiol · Very frequent (99-80%)

A reduction below normal concentration of estradiol in the circulation.

Delayed puberty · Very frequent (99-80%)

Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.

Flat occiput · Very frequent (99-80%)

Reduced convexity of the occiput (posterior part of skull).

Growth delay · Very frequent (99-80%)

A deficiency or slowing down of growth pre- and postnatally.

Hypergonadotropic hypogonadism · Obligate (100%)

Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.

Impotence · Very frequent (99-80%)

Inability to develop or maintain an erection of the penis.

Other findings in the same source

From: Orphanet

Additional reported features include Increased circulating gonadotropin level (Very frequent (99-80%)); Non-obstructive azoospermia (Very frequent (99-80%)); Osteopenia (Very frequent (99-80%)); Osteoporosis (Very frequent (99-80%)); Sparse facial hair (Very frequent (99-80%)); Streak ovary (Very frequent (99-80%)); Thin upper lip vermilion (Very frequent (99-80%)); Alopecia of scalp (Obligate (100%)); Decreased serum testosterone concentration (Very frequent (99-80%)); Infertility (Very frequent (99-80%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Reported case(s): 7.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Primary hypergonadotropic hypogonadism-partial alopecia syndrome is Endocrinology, with a endocrinologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which hormone or metabolic finding is important in this case?
• How should test timing and current medicines be taken into account?
• What follow-up would show whether the care plan is working?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Primary hypergonadotropic hypogonadism-partial alopecia syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.