Premature Pubarche: Causes & Reasons

Possible Causes for Premature Pubarche

Fourteen patients (11 males and 3 females) had ambiguous genitalia with or without salt wasting and with or without premature pubarche. [thedoctorsdoctor.com]

pubarche. [thedoctorsdoctor.com]

Twenty-five children (4 males and 21 females) had premature pubarche only. Fifteen adolescent and adult females had hirsutism with or without menstrual disorder. [thedoctorsdoctor.com]

Congenital Scoliosis due to Bony Malformation

Premature pubarche may occur. Summary Epidemiology The precise prevalence of this form of brachyolmia is not known. About 20 cases have been reported. [orpha.net]

Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature. [uniprot.org]

PAPSS2 mutations were also reported to cause two other disorders: spondyloepimetaphyseal dysplasia, PAPSS2 type (see this term), and spondylodysplasia and premature pubarche [orpha.net]

Precocious Puberty

Premature pubarche before one year of age: distinguishing between mini-puberty variants and precocious puberty. Med. Sci. Monit. 21, 955–963 (2015). [nature.com]

These terms include premature thelarche, premature adrenarche, premature pubarche and premature menarche. [rarediseases.org]

In premature pubarche, the levels of these hormones are elevated. [symptoma.com]

Familial Testotoxicosis

Some studies report that about 10% of children with premature pubarche have a late-onset form of adrenal hyperplasia. 79, 80 Girls with premature pubarche and a history of [glowm.com]

pubarche in post-pubertal Caucasian girls. [drmirkin.com]

These terms include premature thelarche, premature adrenarche, premature pubarche and premature menarche. [rarediseases.org]

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Undiagnosed NCAH may result in infertility, miscarriages, oligomenorrhea, hirsutism, acne, premature pubarche, testicular adrenal rest tumors, adrenal tumors, and voice problems [ncbi.nlm.nih.gov]

The clinical consequences of NCAH expand from infancy, i.e. accelerated growth, to adolescence and adulthood, i.e. premature pubarche, cutaneous symptoms and oligo-ovulation [ncbi.nlm.nih.gov]

J Clin Endocrinol Metab 85, 1678 - 1685 105 Marui, S. et al. ( 2000 ) Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche [cambridge.org]

Adrenocortical Hyperplasia

Premature pubarche can be seen in children as well as accelerated growth velocity and accelerated skeletal maturation (leading to short stature in adulthood). [orpha.net]

pubarche, hirsutism, acne, menstrual irregularities, infertility and spontaneous abortion [10].Patients with CAH require frequent monitoring of biochemical parameters such [ispub.com]

pubarche Premature pubic hair growth 0012411 Primary amenorrhea 0000786 Renal salt wasting Loss of salt in urine 0000127 Short stature Decreased body height Small stature [rarediseases.info.nih.gov]

Central Precocious Puberty Type 1

J Clin Endocrinol Metab 96(6): 1610–22 CrossRef CAS PubMed Central PubMed Google Scholar Ghizzoni L, Gasco V (2010) Premature pubarche. [link.springer.com]

J Pediatr 143(4): 426–7 CrossRef PubMed Google Scholar Atay Z, Turan S, Guran T, et al. (2012) The prevalence and risk factors of premature thelarche and pubarche in 4- to [link.springer.com]

Brachyolmia

pubarche; BCYM4) with mild epi- and metaphyseal changes, with mutations in the PAPSS2 gene at location 10q23.2-q23.3 Clinical manifestations Clinical criteria are: Moderately [de.zxc.wiki]

pubarche; BCYM4) with mild epi- and metaphyseal changes, with mutations in the PAPSS2 gene at location 10q23.2-q23.3 [9] Clinical manifestations Clinical criteria are: [1 [second.wiki]

[…] autosomal dominant with mutations in the TRPV4 gene at location 12q24.11, symptoms less severe, mostly scoliosis or kyphosis Type IV ( Pakistani type ; spondylodysplasia with premature [de.zxc.wiki]

Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency

Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche. [revistas.fucsalud.edu.co]

Spondyloepimetaphyseal Dysplasia Type Pakistani

Some patients may manifest premature pubarche and hyperandrogenism. [ipfs.io]

Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. [medicinaylaboratorio.com]

Central Precocious Puberty Type 2

Premature Pubarche Drug: sugar pill Drug: Metformin, glucophage Not Applicable Layout table for study information Study Type : Interventional (Clinical Trial) Actual Enrollment [clinicaltrials.gov]

Some studies report that about 10% of children with premature pubarche have a late-onset form of adrenal hyperplasia. 79, 80 Girls with premature pubarche and a history of [glowm.com]

However, over this same timeframe there was a comparable increase in the number of new cases of premature pubarche (8% per year, 95 CI 5–12%, p Fig 3 ). [journals.plos.org]

Brachyolmia Type Hobaek

Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature. [uniprot.org]

pubarche; BCYM4) with mild epi- and metaphyseal changes, with mutations in the PAPSS2 gene at location 10q23.2-q23.3 [9] Clinical manifestations Clinical criteria are: [1 [second.wiki]

pubarche; BCYM4) with mild epi- and metaphyseal changes, with mutations in the PAPSS2 gene at location 10q23.2-q23.3 Clinical manifestations Clinical criteria are: Moderately [de.zxc.wiki]

Congenital Lipoid Adrenal Hyperplasia

pubarche, PCOS-likephenotype 14. [slideshare.net]

J Clin Endocrinol Metab 85, 1678 - 1685 105 Marui, S. et al. ( 2000 ) Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche [cambridge.org]

pubarche. [els.net]

Witteveen-Kolk Syndrome

OMIM:608594 Prader-Willi Syndrome Small pituitary gland, Premature pubarche, Central hypothyroidism, Cryptorchidism, Abnormal cereb... [mousephenotype.org]

ORPHA:508 Prader-Willi-Like Syndrome Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... [mousephenotype.org]

ORPHA:37042 Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter [mousephenotype.org]

Congenital Adrenal Hyperplasia

Premature pubarche can be seen in children as well as accelerated growth velocity and accelerated skeletal maturation (leading to short stature in adulthood). [orpha.net]

pubarche Premature pubic hair growth 0012411 Primary amenorrhea 0000786 Recurrent fever Episodic fever Increased body temperature, episodic Intermittent fever [ more ] 0001954 [rarediseases.info.nih.gov]

Less-severe forms of disease have onset in late childhood, adolescence or adulthood and are characterised by signs of virilisation: premature pubarche, accelerated growth [analesdepediatria.org]

Rhizomelic Syndrome Type Urbach

pubarche;spondyloepimetaphyseal dysplasia, pakistani type Related symptoms: Autosomal recessive inheritance Short stature Scoliosis Brachydactyly Gait disturbance SOURCES [mendelian.co]

TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4 Is also known as spondyloepimetaphyseal dysplasia, pakistani type, semd, pakistani type, spondylodysplasia and premature [mendelian.co]

pubarche High anterior hairline Underdeveloped nasal alae Nasolacrimal duct obstruction Autoimmune neutropenia Coarse facial features Kyphosis Hyperreflexia Nystagmus Unilateral [mendelian.co]

Diaminopentanuria

pubarche, Neurodegeneration, Premature thelarche, Opt... [mousephenotype.org]

[…] physiology, Neurodegeneration OMIM:146500 Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration Cerebral atrophy, Hypothyroidism, Premature [mousephenotype.org]

Advanced Bone Age

Natural history of premature pubarche: an auxological study. [frontiersin.org]

Many of the kids Kaplowitz sees have conditions like premature thelarche (breast development) and premature pubarche (appearance of pubic hair) -- without other symptoms. [webmd.com]

Follow-up study of adolescent girls with a history of premature pubarche. [frontiersin.org]

Ichthyosis and Male Hypogonadism

Inactivating PAPSS2 mutations in a patient with premature pubarche. N Engl J Med. 2009;360:2310\u20132318. 238. Oostdijk W, Idkowiak J, Mueller JW, et al. [passeidireto.com]

Prata-Libéral-Gonçalves Syndrome

pubarche;spondyloepimetaphyseal dysplasia, pakistani type Related symptoms: Autosomal recessive inheritance Short stature Scoliosis Brachydactyly Gait disturbance SOURCES [mendelian.co]

TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4 Is also known as spondyloepimetaphyseal dysplasia, pakistani type, semd, pakistani type, spondylodysplasia and premature [mendelian.co]

pubarche Lower limb undergrowth Delayed epiphyseal ossification Secondary amenorrhea Acne Amenorrhea Hirsutism Skeletal dysplasia Ankyloglossia Rotary nystagmus Chorea Global [mendelian.co]

46,XY Sex Reversal Type 4

A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. [semanticscholar.org]

18-Hydroxylase Deficiency

Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche. [revistas.fucsalud.edu.co]

They tended to have a somewhat early pubarche and thelarche; 13% of patients with premature pubarche in one study had mild 3 β -HSD deficiency, 126 but the age at menarche [glowm.com]

[…] adrenarche and pubarche in both genders. [mayocliniclabs.com]

Hyperandrogenism

Other signs suggestive of hyperandrogenism in childhood and adolescence are early pubarche, and premature adrenarche (35). [scielo.br]

Other predisposing factors may include low birth weight, premature pubarche, use of some drugs, type 1 diabetes, obesity and insulin resistance (61). [scielo.br]

17q11 Microdeletion Syndrome

The patient showed short stature, ID, severe hypotonia, ataxia, premature pubarche and dysmorphic features. 19p13.12 Deletion. [scielo.br]

ROHHAD Syndrome

pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and [ncbi.nlm.nih.gov]

[…] developed features characteristic of ROHHAD including obesity, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, premature [ncbi.nlm.nih.gov]

Hypogonadotropic Hypogonadism Type 21

Inactivating PAPSS2 mutations in a patient with premature pubarche. N Engl J Med. 2009;360(22):2310–8. CrossRef PubMed Google Scholar 3. [link.springer.com]

6q25 Microdeletion Syndrome

The patient showed short stature, ID, severe hypotonia, ataxia, premature pubarche and dysmorphic features. 19p13.12 Deletion. [scielo.br]

1q41-q42 Microdeletion Syndrome

The patient showed short stature, ID, severe hypotonia, ataxia, premature pubarche and dysmorphic features. 19p13.12 Deletion. [scielo.br]

Platyspondyly

pubarche;spondyloepimetaphyseal dysplasia, pakistani type Related symptoms: Autosomal recessive inheritance Short stature Scoliosis Brachydactyly Gait disturbance SOURCES [mendelian.co]

Some patients may manifest premature pubarche and hyperandrogenism. [findzebra.com]

TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4 Is also known as spondyloepimetaphyseal dysplasia, pakistani type, semd, pakistani type, spondylodysplasia and premature [mendelian.co]