Phenotypes associated with the disease Primary hypergonadotropic hypogonadism-partial alopecia syndrome (ORPHA:2232):
- Hypergonadotropic hypogonadism (HP:0000815): 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. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2232)
- Alopecia of scalp (HP:0002293). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2232)
- Primary gonadal insufficiency (HP:0008193). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2232)
- Cryptorchidism (HP:0000028): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Abnormal eyebrow morphology (HP:0000534): An abnormality of the eyebrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Infertility (HP:0000789). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Impotence (HP:0000802): Inability to develop or maintain an erection of the penis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Increased circulating gonadotropin level (HP:0000837): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Breast hypoplasia (HP:0003187): Underdevelopment of the breast. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Marked delay in bone age (HP:0003799). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Flat occiput (HP:0005469): Reduced convexity of the occiput (posterior part of skull). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Sparse facial hair (HP:0007464): Reduced number or density of facial hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Absence of secondary sex characteristics (HP:0008187): No secondary sexual characteristics are present at puberty. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Decreased serum estradiol (HP:0008214): A reduction below normal concentration of estradiol in the circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Agonadism (HP:0008633): Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Aplasia/hypoplasia of the uterus (HP:0008684): Absence or developmental hypoplasia of the uterus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Aplasia of the ovary (HP:0010463): Aplasia, that is failure to develop, of the ovary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Streak ovary (HP:0010464): A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Non-obstructive azoospermia (HP:0011961): Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Decreased serum testosterone concentration (HP:0040171). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2232)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2232)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2232)
- Sparse pubic hair (HP:0002225): Reduced number or density of pubic hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2232)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2232)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2232)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2232)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2232)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2232)
- Triphalangeal thumb (HP:0001199): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2232)
- Thenar muscle atrophy (HP:0003393): Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2232)
- Decreased palmar creases (HP:0006184): Poorly defined or shallow palmar creases. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2232)
- Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185): Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2232)
- Small hypothenar eminence (HP:0010487): Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2232)
- Small pituitary gland (HP:0012506): An abnormally decreased size of the pituitary gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2232)